metadata
license: mit
language:
- en
tags:
- genetics
- LLM
- embeddings
Variant Foundation Embeddings
Here we present the variant level embeddings for large-scale genetic analyis as described in 'Incorporating LLM Embeddings for Variation Across the Human Genome,' based on curated annotations using high quality functional data from FAVOR, ClinVar, and GWAS Catalog. We currently present one version of the embeddings for the 1.5 million genetic variant HapMap3 & MEGA datasets using OpenAI's text-embedding-3-large (3072-dimensional) embeddings, with others coming soon.
Genetic variants are identified with their chromosome, position (hg38 build), reference allele based on UKB coding, alternate allele based on UKB coding, and their respective LLM embeddings.
Dataset Schema (OpenAI text-embedding-3-large)
| Field | Type | Description |
|---|---|---|
chrom |
string | Chromosome (e.g., "1", "X") |
pos |
string | Base-pair position (hg38 coordinate system) |
ref_UKB |
string | Reference allele (A, C, G, T) |
alt_UKB |
string | Alternate allele (A, C, G, T) |
embedding |
list[float] | Embedding vector (dimension 3072, float32) |